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Concordance Between Genomic Alterations Detected by Tumor and Germline Sequencing: Results from a Tertiary Care Academic Center Molecular Tumor Board.

Michelle F GreenCatherine H WatsonSarah TaitJie HeDean C PavlickGarrett FramptonJinny RiedelJennifer K PlichtaAndrew J ArmstrongRebecca A PrevisNoah KauffJohn H StricklerMichael B DattoAndrew BerchuckCarolyn S Menendez
Published in: The oncologist (2022)
Mutations in HRD genes identified by tumor-only sequencing are frequently germline. Providers should be aware that technical differences related to assay design, variant filtering, and variant classification can contribute to discordance between tumor-only and germline sequencing test results. In addition, SGZ modeling had high predictive power to distinguish between mutations of somatic and germline origin without the need for a matched normal control, and could potentially be considered to inform clinical decision-making.
Keyphrases
  • dna repair
  • tertiary care
  • single cell
  • decision making
  • machine learning
  • deep learning
  • genome wide
  • oxidative stress
  • gene expression
  • dna damage
  • dna methylation
  • drug induced